Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Parent Node:
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Abnormality of the orbital region (HP:0000315)help
Parent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
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Abnormality of globe size (HP:0100887)help
Term ID: 100887
Name: Abnormality of globe size
Synonym: Abnormality of eyeball size; Eye size difference
Definition: An abnormality in the size of the ocular globe (eyeball).
Comments:
Reference: HP:0100887
Genes and Diseases:
 
       Child Nodes:
........expandAnophthalmia (HP:0000528) help
................... HP:0011478 True anophthalmia
........expandMicrophthalmia (HP:0000568) help
................... HP:0007633 Bilateral microphthalmos
................... HP:0011480 Unilateral microphthalmos
........expandAbnormally large globe (HP:0001090) help
................... HP:0000557 Buphthalmos
................... HP:0007800 Increased axial length of the globe

 Sister Nodes: 
..expandAbnormal anterior eye segment morphology (HP:0004328) help
..expandAbnormal posterior eye segment morphology (HP:0004329) help
..expandAbnormal sclera morphology (HP:0000591) help
..expandAbnormal uvea morphology (HP:0000553) help
..expandAbnormality of globe location (HP:0100886) help
..expandAbnormality of the vasculature of the eye (HP:0008047) help
..expandAplasia/Hypoplasia affecting the eye (HP:0008056) help
..expandPhthisis bulbi (HP:0000667) help
..expandSpontaneous rupture of the globe (HP:0010727) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100887HP:0100887Abnormality of globe size0ABCB6 CL E G H1005847OMIM:614497Microphthalmia, isolated, with coloboma 720
HP:0100887HP:0100887Abnormality of globe size0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0100887HP:0100887Abnormality of globe size0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0100887HP:0100887Abnormality of globe size0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0100887HP:0100887Abnormality of globe size0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0100887HP:0100887Abnormality of globe size0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0100887HP:0100887Abnormality of globe size0ALDH1A3 CL E G H220409ORPHA:35612Nanophthalmos10
HP:0100887HP:0100887Abnormality of globe size0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency35
HP:0100887HP:0100887Abnormality of globe size0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71
HP:0100887HP:0100887Abnormality of globe size0ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 35
HP:0100887HP:0100887Abnormality of globe size0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0100887HP:0100887Abnormality of globe size0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0100887HP:0100887Abnormality of globe size0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0100887HP:0100887Abnormality of globe size0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0100887HP:0100887Abnormality of globe size0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome132
HP:0100887HP:0100887Abnormality of globe size0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsy
HP:0100887HP:0100887Abnormality of globe size0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndrome147
HP:0100887HP:0100887Abnormality of globe size0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1147
HP:0100887HP:0100887Abnormality of globe size0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0100887HP:0100887Abnormality of globe size0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia166
HP:0100887HP:0100887Abnormality of globe size0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0100887HP:0100887Abnormality of globe size0ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs4
HP:0100887HP:0100887Abnormality of globe size0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0100887HP:0100887Abnormality of globe size0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0100887HP:0100887Abnormality of globe size0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0100887HP:0100887Abnormality of globe size0ATR CL E G H545882OMIM:210600Seckel syndrome 1168
HP:0100887HP:0100887Abnormality of globe size0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1143
HP:0100887HP:0100887Abnormality of globe size0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndrome43
HP:0100887HP:0100887Abnormality of globe size0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0100887HP:0100887Abnormality of globe size0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndrome17
HP:0100887HP:0100887Abnormality of globe size0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0100887HP:0100887Abnormality of globe size0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0100887HP:0100887Abnormality of globe size0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0100887HP:0100887Abnormality of globe size0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0100887HP:0100887Abnormality of globe size0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0100887HP:0100887Abnormality of globe size0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0100887HP:0100887Abnormality of globe size0BEST1 CL E G H743912703ORPHA:35612Nanophthalmos182
HP:0100887HP:0100887Abnormality of globe size0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY182
HP:0100887HP:0100887Abnormality of globe size0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomalies38
HP:0100887HP:0100887Abnormality of globe size0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0100887HP:0100887Abnormality of globe size0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0100887HP:0100887Abnormality of globe size0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0100887HP:0100887Abnormality of globe size0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0100887HP:0100887Abnormality of globe size0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0100887HP:0100887Abnormality of globe size0BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0100887HP:0100887Abnormality of globe size0BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndrome5
HP:0100887HP:0100887Abnormality of globe size0BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndrome76
HP:0100887HP:0100887Abnormality of globe size0BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndrome
HP:0100887HP:0100887Abnormality of globe size0C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndrome13
HP:0100887HP:0100887Abnormality of globe size0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0100887HP:0100887Abnormality of globe size0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0100887HP:0100887Abnormality of globe size0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0100887HP:0100887Abnormality of globe size0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0100887HP:0100887Abnormality of globe size0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0100887HP:0100887Abnormality of globe size0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0100887HP:0100887Abnormality of globe size0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0100887HP:0100887Abnormality of globe size0CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4342
HP:0100887HP:0100887Abnormality of globe size0CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndrome17
HP:0100887HP:0100887Abnormality of globe size0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsy227
HP:0100887HP:0100887Abnormality of globe size0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0100887HP:0100887Abnormality of globe size0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0100887HP:0100887Abnormality of globe size0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0100887HP:0100887Abnormality of globe size0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndrome16
HP:0100887HP:0100887Abnormality of globe size0CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0100887HP:0100887Abnormality of globe size0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0100887HP:0100887Abnormality of globe size0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0100887HP:0100887Abnormality of globe size0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndrome193
HP:0100887HP:0100887Abnormality of globe size0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0100887HP:0100887Abnormality of globe size0COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0100887HP:0100887Abnormality of globe size0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0100887HP:0100887Abnormality of globe size0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0100887HP:0100887Abnormality of globe size0CPSF1 CL E G H298942324OMIM:618827MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0100887HP:0100887Abnormality of globe size0CRB1 CL E G H234182343ORPHA:35612Nanophthalmos156
HP:0100887HP:0100887Abnormality of globe size0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0100887HP:0100887Abnormality of globe size0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndrome
HP:0100887HP:0100887Abnormality of globe size0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types33
HP:0100887HP:0100887Abnormality of globe size0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 2157
HP:0100887HP:0100887Abnormality of globe size0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0100887HP:0100887Abnormality of globe size0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0100887HP:0100887Abnormality of globe size0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0100887HP:0100887Abnormality of globe size0CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A101
HP:0100887HP:0100887Abnormality of globe size0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0100887HP:0100887Abnormality of globe size0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0100887HP:0100887Abnormality of globe size0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0100887HP:0100887Abnormality of globe size0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0100887HP:0100887Abnormality of globe size0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndrome108
HP:0100887HP:0100887Abnormality of globe size0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndrome9
HP:0100887HP:0100887Abnormality of globe size0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndrome18
HP:0100887HP:0100887Abnormality of globe size0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 218
HP:0100887HP:0100887Abnormality of globe size0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0100887HP:0100887Abnormality of globe size0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome9
HP:0100887HP:0100887Abnormality of globe size0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency144
HP:0100887HP:0100887Abnormality of globe size0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0100887HP:0100887Abnormality of globe size0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0100887HP:0100887Abnormality of globe size0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0100887HP:0100887Abnormality of globe size0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndrome4
HP:0100887HP:0100887Abnormality of globe size0ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0100887HP:0100887Abnormality of globe size0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0100887HP:0100887Abnormality of globe size0ERCC1 CL E G H20673433ORPHA:1466COFS syndrome20
HP:0100887HP:0100887Abnormality of globe size0ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0100887HP:0100887Abnormality of globe size0ERCC2 CL E G H20683434ORPHA:1466COFS syndrome106
HP:0100887HP:0100887Abnormality of globe size0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0100887HP:0100887Abnormality of globe size0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0100887HP:0100887Abnormality of globe size0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0100887HP:0100887Abnormality of globe size0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0100887HP:0100887Abnormality of globe size0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0100887HP:0100887Abnormality of globe size0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0100887HP:0100887Abnormality of globe size0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0100887HP:0100887Abnormality of globe size0ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 383
HP:0100887HP:0100887Abnormality of globe size0ERCC5 CL E G H20733437ORPHA:1466COFS syndrome83
HP:0100887HP:0100887Abnormality of globe size0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group G83
HP:0100887HP:0100887Abnormality of globe size0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0100887HP:0100887Abnormality of globe size0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0100887HP:0100887Abnormality of globe size0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0100887HP:0100887Abnormality of globe size0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0100887HP:0100887Abnormality of globe size0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0100887HP:0100887Abnormality of globe size0ERCC6 CL E G H20743438ORPHA:1466COFS syndrome199
HP:0100887HP:0100887Abnormality of globe size0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0100887HP:0100887Abnormality of globe size0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0100887HP:0100887Abnormality of globe size0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0100887HP:0100887Abnormality of globe size0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0100887HP:0100887Abnormality of globe size0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0100887HP:0100887Abnormality of globe size0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndrome8
HP:0100887HP:0100887Abnormality of globe size0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0100887HP:0100887Abnormality of globe size0FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 28
HP:0100887HP:0100887Abnormality of globe size0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0100887HP:0100887Abnormality of globe size0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0100887HP:0100887Abnormality of globe size0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0100887HP:0100887Abnormality of globe size0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0100887HP:0100887Abnormality of globe size0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0100887HP:0100887Abnormality of globe size0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0100887HP:0100887Abnormality of globe size0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0100887HP:0100887Abnormality of globe size0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0100887HP:0100887Abnormality of globe size0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0100887HP:0100887Abnormality of globe size0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0100887HP:0100887Abnormality of globe size0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0100887HP:0100887Abnormality of globe size0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0100887HP:0100887Abnormality of globe size0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0100887HP:0100887Abnormality of globe size0FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0100887HP:0100887Abnormality of globe size0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0100887HP:0100887Abnormality of globe size0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0100887HP:0100887Abnormality of globe size0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0100887HP:0100887Abnormality of globe size0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0100887HP:0100887Abnormality of globe size0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0100887HP:0100887Abnormality of globe size0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0100887HP:0100887Abnormality of globe size0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100887HP:0100887Abnormality of globe size0FGF3 CL E G H22483681ORPHA:2791Otodental syndrome18
HP:0100887HP:0100887Abnormality of globe size0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis172
HP:0100887HP:0100887Abnormality of globe size0FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndrome172
HP:0100887HP:0100887Abnormality of globe size0FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome175
HP:0100887HP:0100887Abnormality of globe size0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0100887HP:0100887Abnormality of globe size0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0100887HP:0100887Abnormality of globe size0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0100887HP:0100887Abnormality of globe size0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0100887HP:0100887Abnormality of globe size0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5157
HP:0100887HP:0100887Abnormality of globe size0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndrome157
HP:0100887HP:0100887Abnormality of globe size0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0100887HP:0100887Abnormality of globe size0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4184
HP:0100887HP:0100887Abnormality of globe size0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndrome184
HP:0100887HP:0100887Abnormality of globe size0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0100887HP:0100887Abnormality of globe size0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 223
HP:0100887HP:0100887Abnormality of globe size0FOXE3 CL E G H23013808ORPHA:83461Congenital primary aphakia23
HP:0100887HP:0100887Abnormality of globe size0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis92
HP:0100887HP:0100887Abnormality of globe size0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndrome353
HP:0100887HP:0100887Abnormality of globe size0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0100887HP:0100887Abnormality of globe size0FREM1 CL E G H15832623399OMIM:248450Manitoba oculotrichoanal syndrome198
HP:0100887HP:0100887Abnormality of globe size0FREM1 CL E G H15832623399ORPHA:2717Oculotrichoanal syndrome198
HP:0100887HP:0100887Abnormality of globe size0FREM2 CL E G H34164025396OMIM:123570Cryptophthalmos, unilateral or bilateral, isolated263
HP:0100887HP:0100887Abnormality of globe size0FREM2 CL E G H34164025396ORPHA:2052Fraser syndrome263
HP:0100887HP:0100887Abnormality of globe size0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 13
HP:0100887HP:0100887Abnormality of globe size0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0100887HP:0100887Abnormality of globe size0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0100887HP:0100887Abnormality of globe size0GDF3 CL E G H95734218OMIM:613704Microphthalmia, isolated 77
HP:0100887HP:0100887Abnormality of globe size0GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0100887HP:0100887Abnormality of globe size0GDF6 CL E G H3922554221OMIM:613094MICROPHTHALMIA, ISOLATED 4; MCOP464
HP:0100887HP:0100887Abnormality of globe size0GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0100887HP:0100887Abnormality of globe size0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0100887HP:0100887Abnormality of globe size0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive68
HP:0100887HP:0100887Abnormality of globe size0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0100887HP:0100887Abnormality of globe size0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0100887HP:0100887Abnormality of globe size0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0100887HP:0100887Abnormality of globe size0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0100887HP:0100887Abnormality of globe size0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0100887HP:0100887Abnormality of globe size0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0100887HP:0100887Abnormality of globe size0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0100887HP:0100887Abnormality of globe size0GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome7
HP:0100887HP:0100887Abnormality of globe size0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0100887HP:0100887Abnormality of globe size0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndrome80
HP:0100887HP:0100887Abnormality of globe size0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0100887HP:0100887Abnormality of globe size0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0100887HP:0100887Abnormality of globe size0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0100887HP:0100887Abnormality of globe size0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0100887HP:0100887Abnormality of globe size0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0100887HP:0100887Abnormality of globe size0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2
HP:0100887HP:0100887Abnormality of globe size0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type2
HP:0100887HP:0100887Abnormality of globe size0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0100887HP:0100887Abnormality of globe size0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 132
HP:0100887HP:0100887Abnormality of globe size0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0100887HP:0100887Abnormality of globe size0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndrome113
HP:0100887HP:0100887Abnormality of globe size0HYLS1 CL E G H21984426558ORPHA:2189Hydrolethalus31
HP:0100887HP:0100887Abnormality of globe size0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0100887HP:0100887Abnormality of globe size0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0100887HP:0100887Abnormality of globe size0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0100887HP:0100887Abnormality of globe size0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0100887HP:0100887Abnormality of globe size0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100887HP:0100887Abnormality of globe size0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts4
HP:0100887HP:0100887Abnormality of globe size0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0100887HP:0100887Abnormality of globe size0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 251
HP:0100887HP:0100887Abnormality of globe size0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0100887HP:0100887Abnormality of globe size0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome3
HP:0100887HP:0100887Abnormality of globe size0KERA CL E G H110816309OMIM:217300Cornea plana 28
HP:0100887HP:0100887Abnormality of globe size0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0100887HP:0100887Abnormality of globe size0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndrome46
HP:0100887HP:0100887Abnormality of globe size0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive9
HP:0100887HP:0100887Abnormality of globe size0KIF15 CL E G H5699217273OMIM:619981
HP:0100887HP:0100887Abnormality of globe size0KIF7 CL E G H37465430497ORPHA:2189Hydrolethalus167
HP:0100887HP:0100887Abnormality of globe size0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndrome196
HP:0100887HP:0100887Abnormality of globe size0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0100887HP:0100887Abnormality of globe size0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0100887HP:0100887Abnormality of globe size0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndrome136
HP:0100887HP:0100887Abnormality of globe size0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0100887HP:0100887Abnormality of globe size0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0100887HP:0100887Abnormality of globe size0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome125
HP:0100887HP:0100887Abnormality of globe size0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0100887HP:0100887Abnormality of globe size0LRPAP1 CL E G H40436701OMIM:615431Myopia 23, autosomal recessive4
HP:0100887HP:0100887Abnormality of globe size0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100887HP:0100887Abnormality of globe size0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome5
HP:0100887HP:0100887Abnormality of globe size0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0100887HP:0100887Abnormality of globe size0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbs4
HP:0100887HP:0100887Abnormality of globe size0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0100887HP:0100887Abnormality of globe size0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0100887HP:0100887Abnormality of globe size0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0100887HP:0100887Abnormality of globe size0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0100887HP:0100887Abnormality of globe size0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0100887HP:0100887Abnormality of globe size0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 526
HP:0100887HP:0100887Abnormality of globe size0MFRP CL E G H8355218121ORPHA:35612Nanophthalmos26
HP:0100887HP:0100887Abnormality of globe size0MFRP CL E G H8355218121OMIM:609549Nanophthalmos 226
HP:0100887HP:0100887Abnormality of globe size0MITF CL E G H42867105OMIM:617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness91
HP:0100887HP:0100887Abnormality of globe size0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0100887HP:0100887Abnormality of globe size0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0100887HP:0100887Abnormality of globe size0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0100887HP:0100887Abnormality of globe size0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0100887HP:0100887Abnormality of globe size0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0100887HP:0100887Abnormality of globe size0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0100887HP:0100887Abnormality of globe size0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0100887HP:0100887Abnormality of globe size0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0100887HP:0100887Abnormality of globe size0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0100887HP:0100887Abnormality of globe size0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0100887HP:0100887Abnormality of globe size0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0100887HP:0100887Abnormality of globe size0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0100887HP:0100887Abnormality of globe size0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0100887HP:0100887Abnormality of globe size0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0100887HP:0100887Abnormality of globe size0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0100887HP:0100887Abnormality of globe size0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsy52
HP:0100887HP:0100887Abnormality of globe size0NHS CL E G H48107820ORPHA:627Nance-Horan syndrome88
HP:0100887HP:0100887Abnormality of globe size0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome88
HP:0100887HP:0100887Abnormality of globe size0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndrome452
HP:0100887HP:0100887Abnormality of globe size0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndrome102
HP:0100887HP:0100887Abnormality of globe size0NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0100887HP:0100887Abnormality of globe size0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0100887HP:0100887Abnormality of globe size0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0100887HP:0100887Abnormality of globe size0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0100887HP:0100887Abnormality of globe size0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3
HP:0100887HP:0100887Abnormality of globe size0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 541
HP:0100887HP:0100887Abnormality of globe size0OTX2 CL E G H50158522ORPHA:35612Nanophthalmos41
HP:0100887HP:0100887Abnormality of globe size0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0100887HP:0100887Abnormality of globe size0PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome39
HP:0100887HP:0100887Abnormality of globe size0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0100887HP:0100887Abnormality of globe size0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0100887HP:0100887Abnormality of globe size0PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0100887HP:0100887Abnormality of globe size0PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasia194
HP:0100887HP:0100887Abnormality of globe size0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome11
HP:0100887HP:0100887Abnormality of globe size0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0100887HP:0100887Abnormality of globe size0PEX7 CL E G H51918860ORPHA:773Refsum disease72
HP:0100887HP:0100887Abnormality of globe size0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0100887HP:0100887Abnormality of globe size0PHYH CL E G H52648940ORPHA:773Refsum disease45
HP:0100887HP:0100887Abnormality of globe size0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome77
HP:0100887HP:0100887Abnormality of globe size0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0100887HP:0100887Abnormality of globe size0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0100887HP:0100887Abnormality of globe size0PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome162
HP:0100887HP:0100887Abnormality of globe size0PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome12
HP:0100887HP:0100887Abnormality of globe size0PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types6
HP:0100887HP:0100887Abnormality of globe size0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 211
HP:0100887HP:0100887Abnormality of globe size0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0100887HP:0100887Abnormality of globe size0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0100887HP:0100887Abnormality of globe size0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0100887HP:0100887Abnormality of globe size0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0100887HP:0100887Abnormality of globe size0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0100887HP:0100887Abnormality of globe size0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndrome180
HP:0100887HP:0100887Abnormality of globe size0POMGNT2 CL E G H8489225902OMIM:614830MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 833
HP:0100887HP:0100887Abnormality of globe size0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndrome33
HP:0100887HP:0100887Abnormality of globe size0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0100887HP:0100887Abnormality of globe size0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1218
HP:0100887HP:0100887Abnormality of globe size0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndrome18
HP:0100887HP:0100887Abnormality of globe size0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0100887HP:0100887Abnormality of globe size0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0100887HP:0100887Abnormality of globe size0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndrome213
HP:0100887HP:0100887Abnormality of globe size0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0100887HP:0100887Abnormality of globe size0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0100887HP:0100887Abnormality of globe size0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0100887HP:0100887Abnormality of globe size0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndrome221
HP:0100887HP:0100887Abnormality of globe size0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0100887HP:0100887Abnormality of globe size0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0100887HP:0100887Abnormality of globe size0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0100887HP:0100887Abnormality of globe size0PRIM1 CL E G H55579369OMIM:620005
HP:0100887HP:0100887Abnormality of globe size0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0100887HP:0100887Abnormality of globe size0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 611
HP:0100887HP:0100887Abnormality of globe size0PRSS56 CL E G H64696039433ORPHA:35612Nanophthalmos11
HP:0100887HP:0100887Abnormality of globe size0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100887HP:0100887Abnormality of globe size0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0100887HP:0100887Abnormality of globe size0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3665
HP:0100887HP:0100887Abnormality of globe size0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100887HP:0100887Abnormality of globe size0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0100887HP:0100887Abnormality of globe size0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0100887HP:0100887Abnormality of globe size0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0100887HP:0100887Abnormality of globe size0PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies22
HP:0100887HP:0100887Abnormality of globe size0RAB18 CL E G H2293114244ORPHA:2510Micro syndrome85
HP:0100887HP:0100887Abnormality of globe size0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0100887HP:0100887Abnormality of globe size0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndrome90
HP:0100887HP:0100887Abnormality of globe size0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0100887HP:0100887Abnormality of globe size0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0100887HP:0100887Abnormality of globe size0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndrome135
HP:0100887HP:0100887Abnormality of globe size0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2135
HP:0100887HP:0100887Abnormality of globe size0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0100887HP:0100887Abnormality of globe size0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0100887HP:0100887Abnormality of globe size0RARB CL E G H59159865ORPHA:2470Matthew-Wood syndrome9
HP:0100887HP:0100887Abnormality of globe size0RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 129
HP:0100887HP:0100887Abnormality of globe size0RAX CL E G H3006218662OMIM:611038Microphthalmia, isolated 343
HP:0100887HP:0100887Abnormality of globe size0RAX CL E G H3006218662ORPHA:35612Nanophthalmos43
HP:0100887HP:0100887Abnormality of globe size0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0100887HP:0100887Abnormality of globe size0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0100887HP:0100887Abnormality of globe size0RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 108
HP:0100887HP:0100887Abnormality of globe size0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndrome3
HP:0100887HP:0100887Abnormality of globe size0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0100887HP:0100887Abnormality of globe size0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0100887HP:0100887Abnormality of globe size0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0100887HP:0100887Abnormality of globe size0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0100887HP:0100887Abnormality of globe size0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0100887HP:0100887Abnormality of globe size0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0100887HP:0100887Abnormality of globe size0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0100887HP:0100887Abnormality of globe size0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0100887HP:0100887Abnormality of globe size0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0100887HP:0100887Abnormality of globe size0RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5167
HP:0100887HP:0100887Abnormality of globe size0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0100887HP:0100887Abnormality of globe size0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0100887HP:0100887Abnormality of globe size0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0100887HP:0100887Abnormality of globe size0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0100887HP:0100887Abnormality of globe size0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndrome
HP:0100887HP:0100887Abnormality of globe size0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0100887HP:0100887Abnormality of globe size0SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndrome86
HP:0100887HP:0100887Abnormality of globe size0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0100887HP:0100887Abnormality of globe size0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0100887HP:0100887Abnormality of globe size0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsy1053
HP:0100887HP:0100887Abnormality of globe size0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0100887HP:0100887Abnormality of globe size0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0100887HP:0100887Abnormality of globe size0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0100887HP:0100887Abnormality of globe size0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0100887HP:0100887Abnormality of globe size0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0100887HP:0100887Abnormality of globe size0SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0100887HP:0100887Abnormality of globe size0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0100887HP:0100887Abnormality of globe size0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0100887HP:0100887Abnormality of globe size0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0100887HP:0100887Abnormality of globe size0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0100887HP:0100887Abnormality of globe size0SIX6 CL E G H499010892ORPHA:35612Nanophthalmos20
HP:0100887HP:0100887Abnormality of globe size0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy20
HP:0100887HP:0100887Abnormality of globe size0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0100887HP:0100887Abnormality of globe size0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsy255
HP:0100887HP:0100887Abnormality of globe size0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 213
HP:0100887HP:0100887Abnormality of globe size0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsy29
HP:0100887HP:0100887Abnormality of globe size0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0100887HP:0100887Abnormality of globe size0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0100887HP:0100887Abnormality of globe size0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo type146
HP:0100887HP:0100887Abnormality of globe size0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0100887HP:0100887Abnormality of globe size0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome174
HP:0100887HP:0100887Abnormality of globe size0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0100887HP:0100887Abnormality of globe size0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0100887HP:0100887Abnormality of globe size0SMO CL E G H660811119ORPHA:1553Curry-Jones syndrome22
HP:0100887HP:0100887Abnormality of globe size0SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies15
HP:0100887HP:0100887Abnormality of globe size0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0100887HP:0100887Abnormality of globe size0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndrome33
HP:0100887HP:0100887Abnormality of globe size0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0100887HP:0100887Abnormality of globe size0SOX2 CL E G H665711195ORPHA:35612Nanophthalmos33
HP:0100887HP:0100887Abnormality of globe size0SPECC1L CL E G H2338429022OMIM:600251Facial clefting, oblique, 16
HP:0100887HP:0100887Abnormality of globe size0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0100887HP:0100887Abnormality of globe size0STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndrome71
HP:0100887HP:0100887Abnormality of globe size0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 971
HP:0100887HP:0100887Abnormality of globe size0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100887HP:0100887Abnormality of globe size0SYCE1 CL E G H9342628852OMIM:616947PREMATURE OVARIAN FAILURE 12; POF124
HP:0100887HP:0100887Abnormality of globe size0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsy108
HP:0100887HP:0100887Abnormality of globe size0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0100887HP:0100887Abnormality of globe size0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndrome15
HP:0100887HP:0100887Abnormality of globe size0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0100887HP:0100887Abnormality of globe size0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0100887HP:0100887Abnormality of globe size0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0100887HP:0100887Abnormality of globe size0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0100887HP:0100887Abnormality of globe size0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0100887HP:0100887Abnormality of globe size0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0100887HP:0100887Abnormality of globe size0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0100887HP:0100887Abnormality of globe size0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0100887HP:0100887Abnormality of globe size0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0100887HP:0100887Abnormality of globe size0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0100887HP:0100887Abnormality of globe size0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0100887HP:0100887Abnormality of globe size0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0100887HP:0100887Abnormality of globe size0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 912
HP:0100887HP:0100887Abnormality of globe size0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0100887HP:0100887Abnormality of globe size0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0100887HP:0100887Abnormality of globe size0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0100887HP:0100887Abnormality of globe size0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 245
HP:0100887HP:0100887Abnormality of globe size0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0100887HP:0100887Abnormality of globe size0TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 245
HP:0100887HP:0100887Abnormality of globe size0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0100887HP:0100887Abnormality of globe size0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 1482
HP:0100887HP:0100887Abnormality of globe size0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0100887HP:0100887Abnormality of globe size0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0100887HP:0100887Abnormality of globe size0TMEM98 CL E G H2602224529ORPHA:35612Nanophthalmos3
HP:0100887HP:0100887Abnormality of globe size0TMEM98 CL E G H2602224529OMIM:615972Nanophthalmos 43
HP:0100887HP:0100887Abnormality of globe size0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0100887HP:0100887Abnormality of globe size0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0100887HP:0100887Abnormality of globe size0TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndrome2
HP:0100887HP:0100887Abnormality of globe size0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0100887HP:0100887Abnormality of globe size0TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 614
HP:0100887HP:0100887Abnormality of globe size0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbs14
HP:0100887HP:0100887Abnormality of globe size0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0100887HP:0100887Abnormality of globe size0TUBGCP4 CL E G H2722916691OMIM:616335Microcephaly and chorioretinopathy, autosomal recessive, 314
HP:0100887HP:0100887Abnormality of globe size0TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 161
HP:0100887HP:0100887Abnormality of globe size0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0100887HP:0100887Abnormality of globe size0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0100887HP:0100887Abnormality of globe size0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0100887HP:0100887Abnormality of globe size0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0100887HP:0100887Abnormality of globe size0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0100887HP:0100887Abnormality of globe size0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0100887HP:0100887Abnormality of globe size0VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 115
HP:0100887HP:0100887Abnormality of globe size0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0100887HP:0100887Abnormality of globe size0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0100887HP:0100887Abnormality of globe size0VSX2 CL E G H3389171975OMIM:610093MICROPHTHALMIA, ISOLATED 2; MCOP266
HP:0100887HP:0100887Abnormality of globe size0VSX2 CL E G H3389171975OMIM:610092MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB366
HP:0100887HP:0100887Abnormality of globe size0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0100887HP:0100887Abnormality of globe size0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0100887HP:0100887Abnormality of globe size0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0100887HP:0100887Abnormality of globe size0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive12
HP:0100887HP:0100887Abnormality of globe size0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0100887HP:0100887Abnormality of globe size0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0100887HP:0100887Abnormality of globe size0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndrome5
HP:0100887HP:0100887Abnormality of globe size0YAP1 CL E G H1041316262OMIM:120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation2
HP:0100887HP:0100887Abnormality of globe size0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability2
HP:0100887HP:0100887Abnormality of globe size0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0100887HP:0100887Abnormality of globe size0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0100887HP:0100887Abnormality of globe size0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0100887HP:0100887Abnormality of globe size0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0100887HP:0100887Abnormality of globe size0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0100887HP:0000568Microphthalmia1ABCB6 CL E G H1005847OMIM:614497Microphthalmia, isolated, with coloboma 7HP:0040283 - Occasional20
HP:0100887HP:0000568Microphthalmia1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1HP:0040283 - Occasional72
HP:0100887HP:0000568Microphthalmia1ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2HP:0040283 - Occasional123
HP:0100887HP:0001090Abnormally large globe1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0100887HP:0001090Abnormally large globe1AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0100887HP:0000568Microphthalmia1ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 8.10
HP:0100887HP:0000528Anophthalmia1ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0100887HP:0000568Microphthalmia1ALDH1A3 CL E G H220409ORPHA:35612NanophthalmosHP:0040281 - Very frequent10
HP:0100887HP:0000568Microphthalmia1ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0100887HP:0001090Abnormally large globe1ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0100887HP:0000568Microphthalmia1ALX1 CL E G H80921494OMIM:613456Frontonasal dysplasia 3.5
HP:0100887HP:0000568Microphthalmia1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0100887HP:0000568Microphthalmia1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0100887HP:0000568Microphthalmia1ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0100887HP:0000568Microphthalmia1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0100887HP:0000568Microphthalmia1ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040282 - Frequent132
HP:0100887HP:0000568Microphthalmia1AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0100887HP:0000568Microphthalmia1ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent147
HP:0100887HP:0000568Microphthalmia1ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0100887HP:0000568Microphthalmia1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0100887HP:0001090Abnormally large globe1ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0100887HP:0000568Microphthalmia1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0100887HP:0000568Microphthalmia1ASPH CL E G H444757OMIM:601552Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebsHP:0040283 - Occasional4
HP:0100887HP:0000568Microphthalmia1ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies16
HP:0100887HP:0000568Microphthalmia1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0100887HP:0001090Abnormally large globe1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0100887HP:0001090Abnormally large globe1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0100887HP:0000568Microphthalmia1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0100887HP:0001090Abnormally large globe1ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0100887HP:0000568Microphthalmia1B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0100887HP:0000568Microphthalmia1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent43
HP:0100887HP:0000528Anophthalmia1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent43
HP:0100887HP:0001090Abnormally large globe1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0100887HP:0000528Anophthalmia1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent17
HP:0100887HP:0000568Microphthalmia1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent17
HP:0100887HP:0000568Microphthalmia1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0100887HP:0000528Anophthalmia1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0100887HP:0000528Anophthalmia1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0100887HP:0000568Microphthalmia1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0100887HP:0000568Microphthalmia1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040281 - Very frequent101
HP:0100887HP:0000528Anophthalmia1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0100887HP:0000568Microphthalmia1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0100887HP:0000568Microphthalmia1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0100887HP:0000528Anophthalmia1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0100887HP:0000568Microphthalmia1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040281 - Very frequent101
HP:0100887HP:0000568Microphthalmia1BEST1 CL E G H743912703ORPHA:35612NanophthalmosHP:0040281 - Very frequent182
HP:0100887HP:0000568Microphthalmia1BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHYHP:0040283 - Occasional182
HP:0100887HP:0000568Microphthalmia1BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040281 - Very frequent38
HP:0100887HP:0000528Anophthalmia1BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040281 - Very frequent38
HP:0100887HP:0000528Anophthalmia1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0100887HP:0000568Microphthalmia1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0100887HP:0000568Microphthalmia1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0100887HP:0000568Microphthalmia1BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0100887HP:0000568Microphthalmia1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0100887HP:0000568Microphthalmia1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0100887HP:0000568Microphthalmia1BRIP1 CL E G H8399020473OMIM:609054FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ1086
HP:0100887HP:0000568Microphthalmia1BUB1 CL E G H6991148ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent5
HP:0100887HP:0000568Microphthalmia1BUB1B CL E G H7011149ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent76
HP:0100887HP:0000568Microphthalmia1BUB3 CL E G H91841151ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent
HP:0100887HP:0000568Microphthalmia1C12ORF57 CL E G H11324629521ORPHA:1777Temtamy syndromeHP:0040283 - Occasional13
HP:0100887HP:0000568Microphthalmia1CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0100887HP:0000568Microphthalmia1CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0100887HP:0001090Abnormally large globe1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia.118
HP:0100887HP:0000528Anophthalmia1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0100887HP:0000568Microphthalmia1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0100887HP:0000568Microphthalmia1CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0100887HP:0000568Microphthalmia1CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0100887HP:0000528Anophthalmia1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0100887HP:0000568Microphthalmia1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0100887HP:0000568Microphthalmia1CEP290 CL E G H8018429021OMIM:611134Meckel syndrome, type 4HP:0040283 - Occasional342
HP:0100887HP:0000568Microphthalmia1CEP57 CL E G H970230794ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent17
HP:0100887HP:0000568Microphthalmia1CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0100887HP:0000568Microphthalmia1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0100887HP:0000528Anophthalmia1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0100887HP:0000568Microphthalmia1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0100887HP:0000528Anophthalmia1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0100887HP:0001090Abnormally large globe1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0100887HP:0001090Abnormally large globe1CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040282 - Frequent16
HP:0100887HP:0000568Microphthalmia1CHUK CL E G H11471974OMIM:619339BARTSOCAS-PAPAS SYNDROME 2; BPS23
HP:0100887HP:0001090Abnormally large globe1COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II284
HP:0100887HP:0000568Microphthalmia1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0100887HP:0000528Anophthalmia1COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent193
HP:0100887HP:0000568Microphthalmia1COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent193
HP:0100887HP:0000568Microphthalmia1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0100887HP:0000568Microphthalmia1COX14 CL E G H8498728216OMIM:619053MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN104
HP:0100887HP:0000568Microphthalmia1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent6
HP:0100887HP:0000528Anophthalmia1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent6
HP:0100887HP:0000568Microphthalmia1COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 7.6
HP:0100887HP:0001090Abnormally large globe1CPSF1 CL E G H298942324OMIM:618827MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0100887HP:0000568Microphthalmia1CRB1 CL E G H234182343ORPHA:35612NanophthalmosHP:0040281 - Very frequent156
HP:0100887HP:0000568Microphthalmia1CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0100887HP:0000528Anophthalmia1CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0100887HP:0000568Microphthalmia1CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0100887HP:0000568Microphthalmia1CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple typesHP:0040283 - Occasional33
HP:0100887HP:0000528Anophthalmia1CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21HP:0040283 - Occasional57
HP:0100887HP:0000528Anophthalmia1CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0100887HP:0000568Microphthalmia1CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0100887HP:0000568Microphthalmia1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040282 - Frequent17
HP:0100887HP:0000568Microphthalmia1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0100887HP:0001090Abnormally large globe1CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A101
HP:0100887HP:0000568Microphthalmia1CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0100887HP:0000568Microphthalmia1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional2
HP:0100887HP:0001090Abnormally large globe1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0100887HP:0000568Microphthalmia1DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0100887HP:0001090Abnormally large globe1DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0100887HP:0000528Anophthalmia1DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent108
HP:0100887HP:0000568Microphthalmia1DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent108
HP:0100887HP:0000568Microphthalmia1DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent9
HP:0100887HP:0000568Microphthalmia1DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent18
HP:0100887HP:0000568Microphthalmia1DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2HP:0040283 - Occasional18
HP:0100887HP:0000528Anophthalmia1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0100887HP:0000568Microphthalmia1DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0100887HP:0000568Microphthalmia1DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0100887HP:0000568Microphthalmia1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0100887HP:0000568Microphthalmia1EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0100887HP:0000568Microphthalmia1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctataHP:0040283 - Occasional51
HP:0100887HP:0000568Microphthalmia1EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent4
HP:0100887HP:0000568Microphthalmia1ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 420
HP:0100887HP:0000528Anophthalmia1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0100887HP:0000568Microphthalmia1ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0100887HP:0000568Microphthalmia1ERCC2 CL E G H20683434OMIM:610756Cerebrooculofacioskeletal syndrome 2106
HP:0100887HP:0000568Microphthalmia1ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0100887HP:0000568Microphthalmia1ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0100887HP:0000568Microphthalmia1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitiveHP:0040283 - Occasional106
HP:0100887HP:0000568Microphthalmia1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0100887HP:0000568Microphthalmia1ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0100887HP:0000568Microphthalmia1ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0100887HP:0000528Anophthalmia1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0100887HP:0000568Microphthalmia1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0100887HP:0000568Microphthalmia1ERCC5 CL E G H20733437OMIM:616570Cerebrooculofacioskeletal syndrome 3HP:0040283 - Occasional83
HP:0100887HP:0000568Microphthalmia1ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0100887HP:0000568Microphthalmia1ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group GHP:0040283 - Occasional83
HP:0100887HP:0000568Microphthalmia1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0100887HP:0000528Anophthalmia1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0100887HP:0000528Anophthalmia1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0100887HP:0000568Microphthalmia1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0100887HP:0000568Microphthalmia1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0100887HP:0000568Microphthalmia1ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0100887HP:0000528Anophthalmia1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0100887HP:0000528Anophthalmia1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0100887HP:0000568Microphthalmia1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0100887HP:0000568Microphthalmia1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0100887HP:0000568Microphthalmia1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0100887HP:0000568Microphthalmia1FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndrome8
HP:0100887HP:0000568Microphthalmia1FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0100887HP:0000568Microphthalmia1FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 2.8
HP:0100887HP:0000568Microphthalmia1FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0100887HP:0000568Microphthalmia1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0100887HP:0000568Microphthalmia1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0100887HP:0000568Microphthalmia1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0100887HP:0000528Anophthalmia1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0100887HP:0000568Microphthalmia1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0100887HP:0000568Microphthalmia1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0100887HP:0000568Microphthalmia1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0100887HP:0000568Microphthalmia1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0100887HP:0000568Microphthalmia1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0100887HP:0000568Microphthalmia1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0100887HP:0000568Microphthalmia1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0100887HP:0000568Microphthalmia1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0100887HP:0000568Microphthalmia1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0100887HP:0000568Microphthalmia1FANCG CL E G H21893588OMIM:614082FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG73
HP:0100887HP:0000568Microphthalmia1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0100887HP:0000568Microphthalmia1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0100887HP:0000568Microphthalmia1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0100887HP:0000568Microphthalmia1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0100887HP:0000568Microphthalmia1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0100887HP:0001090Abnormally large globe1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0100887HP:0000568Microphthalmia1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100887HP:0000568Microphthalmia1FGF3 CL E G H22483681ORPHA:2791Otodental syndromeHP:0040283 - Occasional18
HP:0100887HP:0000568Microphthalmia1FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0100887HP:0000568Microphthalmia1FGFR1 CL E G H22603688ORPHA:2117Hartsfield syndromeHP:0040281 - Very frequent172
HP:0100887HP:0001090Abnormally large globe1FGFR2 CL E G H22633689OMIM:614592Bent bone dysplasia syndrome.175
HP:0100887HP:0001090Abnormally large globe1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0100887HP:0000568Microphthalmia1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0100887HP:0000568Microphthalmia1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare157
HP:0100887HP:0000568Microphthalmia1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0100887HP:0001090Abnormally large globe1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0100887HP:0000568Microphthalmia1FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0100887HP:0000568Microphthalmia1FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent157
HP:0100887HP:0000528Anophthalmia1FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent157
HP:0100887HP:0001090Abnormally large globe1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0100887HP:0000568Microphthalmia1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0100887HP:0000568Microphthalmia1FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0100887HP:0000568Microphthalmia1FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent184
HP:0100887HP:0000528Anophthalmia1FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent184
HP:0100887HP:0000568Microphthalmia1FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0100887HP:0000568Microphthalmia1FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0100887HP:0000568Microphthalmia1FOXE3 CL E G H23013808ORPHA:83461Congenital primary aphakiaHP:0040281 - Very frequent23
HP:0100887HP:0000568Microphthalmia1FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0100887HP:0000528Anophthalmia1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0100887HP:0000568Microphthalmia1FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome353
HP:0100887HP:0000568Microphthalmia1FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0100887HP:0000528Anophthalmia1FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0100887HP:0000528Anophthalmia1FREM1 CL E G H15832623399OMIM:248450Manitoba oculotrichoanal syndrome.198
HP:0100887HP:0000568Microphthalmia1FREM1 CL E G H15832623399OMIM:248450Manitoba oculotrichoanal syndrome.198
HP:0100887HP:0000568Microphthalmia1FREM1 CL E G H15832623399ORPHA:2717Oculotrichoanal syndromeHP:0040283 - Occasional198
HP:0100887HP:0000528Anophthalmia1FREM1 CL E G H15832623399ORPHA:2717Oculotrichoanal syndromeHP:0040283 - Occasional198
HP:0100887HP:0000568Microphthalmia1FREM2 CL E G H34164025396OMIM:123570Cryptophthalmos, unilateral or bilateral, isolated.263
HP:0100887HP:0000568Microphthalmia1FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0100887HP:0000528Anophthalmia1FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0100887HP:0001090Abnormally large globe1FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 13
HP:0100887HP:0000568Microphthalmia1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0100887HP:0000568Microphthalmia1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0100887HP:0001090Abnormally large globe1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0100887HP:0000568Microphthalmia1GDF3 CL E G H95734218OMIM:613704Microphthalmia, isolated 7.7
HP:0100887HP:0000568Microphthalmia1GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0100887HP:0000568Microphthalmia1GDF6 CL E G H3922554221OMIM:613094MICROPHTHALMIA, ISOLATED 4; MCOP464
HP:0100887HP:0000568Microphthalmia1GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0100887HP:0000568Microphthalmia1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0100887HP:0000568Microphthalmia1GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0100887HP:0000568Microphthalmia1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0100887HP:0000568Microphthalmia1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0100887HP:0000528Anophthalmia1GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9.173
HP:0100887HP:0000568Microphthalmia1GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9.173
HP:0100887HP:0000568Microphthalmia1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0100887HP:0000568Microphthalmia1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0100887HP:0001090Abnormally large globe1GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism143
HP:0100887HP:0000568Microphthalmia1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare34
HP:0100887HP:0001090Abnormally large globe1GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome7
HP:0100887HP:0000568Microphthalmia1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0100887HP:0000528Anophthalmia1GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0100887HP:0000568Microphthalmia1GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0100887HP:0000568Microphthalmia1GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0100887HP:0000568Microphthalmia1GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0100887HP:0000568Microphthalmia1GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0100887HP:0000528Anophthalmia1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent11
HP:0100887HP:0000568Microphthalmia1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent11
HP:0100887HP:0000568Microphthalmia1HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 7.11
HP:0100887HP:0000568Microphthalmia1HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.2
HP:0100887HP:0000568Microphthalmia1HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040281 - Very frequent2
HP:0100887HP:0000568Microphthalmia1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0100887HP:0000568Microphthalmia1HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0100887HP:0000568Microphthalmia1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome.2
HP:0100887HP:0000568Microphthalmia1HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent113
HP:0100887HP:0000528Anophthalmia1HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040283 - Occasional31
HP:0100887HP:0000568Microphthalmia1HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040283 - Occasional31
HP:0100887HP:0000568Microphthalmia1HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0100887HP:0000568Microphthalmia1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0100887HP:0000568Microphthalmia1IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0100887HP:0000568Microphthalmia1INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0100887HP:0000568Microphthalmia1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0100887HP:0000568Microphthalmia1JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataracts4
HP:0100887HP:0000568Microphthalmia1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0100887HP:0001090Abnormally large globe1KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0100887HP:0001090Abnormally large globe1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0100887HP:0001090Abnormally large globe1KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0100887HP:0000568Microphthalmia1KERA CL E G H110816309OMIM:217300Cornea plana 28
HP:0100887HP:0000568Microphthalmia1KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0100887HP:0000528Anophthalmia1KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0100887HP:0000568Microphthalmia1KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0100887HP:0000568Microphthalmia1KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0100887HP:0000568Microphthalmia1KIF15 CL E G H5699217273OMIM:619981
HP:0100887HP:0000568Microphthalmia1KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040283 - Occasional167
HP:0100887HP:0000528Anophthalmia1KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040283 - Occasional167
HP:0100887HP:0000568Microphthalmia1KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent196
HP:0100887HP:0000568Microphthalmia1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0100887HP:0001090Abnormally large globe1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0100887HP:0000568Microphthalmia1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0100887HP:0000528Anophthalmia1LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent136
HP:0100887HP:0000568Microphthalmia1LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent136
HP:0100887HP:0000568Microphthalmia1LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0100887HP:0000568Microphthalmia1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0100887HP:0000568Microphthalmia1LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome.125
HP:0100887HP:0000568Microphthalmia1LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040283 - Occasional125
HP:0100887HP:0001090Abnormally large globe1LRPAP1 CL E G H40436701OMIM:615431Myopia 23, autosomal recessive4
HP:0100887HP:0001090Abnormally large globe1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100887HP:0000528Anophthalmia1MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome.5
HP:0100887HP:0000568Microphthalmia1MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome.5
HP:0100887HP:0000568Microphthalmia1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0100887HP:0000568Microphthalmia1MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0100887HP:0000568Microphthalmia1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0100887HP:0000568Microphthalmia1MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040282 - Frequent22
HP:0100887HP:0000568Microphthalmia1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0100887HP:0000568Microphthalmia1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0100887HP:0000568Microphthalmia1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0100887HP:0000568Microphthalmia1MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0100887HP:0000568Microphthalmia1MFRP CL E G H8355218121ORPHA:35612NanophthalmosHP:0040281 - Very frequent26
HP:0100887HP:0000568Microphthalmia1MFRP CL E G H8355218121OMIM:609549Nanophthalmos 2.26
HP:0100887HP:0000568Microphthalmia1MITF CL E G H42867105OMIM:617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.91
HP:0100887HP:0000568Microphthalmia1MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0100887HP:0000528Anophthalmia1MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0100887HP:0000568Microphthalmia1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0100887HP:0000568Microphthalmia1MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0100887HP:0000568Microphthalmia1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitiveHP:0040283 - Occasional9
HP:0100887HP:0000568Microphthalmia1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040281 - Very frequent23
HP:0100887HP:0000528Anophthalmia1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0100887HP:0000568Microphthalmia1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0100887HP:0001090Abnormally large globe1NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0100887HP:0000568Microphthalmia1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linkedHP:0040283 - Occasional39
HP:0100887HP:0000568Microphthalmia1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0100887HP:0000568Microphthalmia1NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0100887HP:0000568Microphthalmia1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040281 - Very frequent39
HP:0100887HP:0001090Abnormally large globe1NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0100887HP:0001090Abnormally large globe1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0100887HP:0000568Microphthalmia1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0100887HP:0000568Microphthalmia1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent3
HP:0100887HP:0000528Anophthalmia1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040281 - Very frequent3
HP:0100887HP:0000568Microphthalmia1NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 7.3
HP:0100887HP:0000568Microphthalmia1NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare52
HP:0100887HP:0000568Microphthalmia1NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040283 - Occasional88
HP:0100887HP:0000568Microphthalmia1NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0100887HP:0000568Microphthalmia1NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent452
HP:0100887HP:0000568Microphthalmia1NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040281 - Very frequent102
HP:0100887HP:0000528Anophthalmia1NUAK2 CL E G H8178829558OMIM:619452ANENCEPHALY 2; ANPH2
HP:0100887HP:0000568Microphthalmia1NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0100887HP:0000568Microphthalmia1OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0100887HP:0001090Abnormally large globe1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0100887HP:0000568Microphthalmia1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040283 - Occasional88
HP:0100887HP:0000568Microphthalmia1OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0100887HP:0000568Microphthalmia1OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0100887HP:0000528Anophthalmia1OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5.41
HP:0100887HP:0000568Microphthalmia1OTX2 CL E G H50158522ORPHA:35612NanophthalmosHP:0040281 - Very frequent41
HP:0100887HP:0000568Microphthalmia1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0100887HP:0000568Microphthalmia1PAX2 CL E G H50768616OMIM:120330Papillorenal syndrome.39
HP:0100887HP:0000568Microphthalmia1PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0100887HP:0000568Microphthalmia1PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0100887HP:0000568Microphthalmia1PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0100887HP:0000568Microphthalmia1PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasia194
HP:0100887HP:0000568Microphthalmia1PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040283 - Occasional11
HP:0100887HP:0000568Microphthalmia1PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0100887HP:0000568Microphthalmia1PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040283 - Occasional72
HP:0100887HP:0000568Microphthalmia1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0100887HP:0000568Microphthalmia1PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040283 - Occasional45
HP:0100887HP:0000568Microphthalmia1PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0100887HP:0000568Microphthalmia1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040283 - Occasional37
HP:0100887HP:0001090Abnormally large globe1PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0100887HP:0000568Microphthalmia1PIK3CA CL E G H52908975OMIM:602501Megalencephaly-Capillary malformation-polymicrogyria syndrome.162
HP:0100887HP:0001090Abnormally large globe1PIK3R2 CL E G H52968980OMIM:603387Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome.12
HP:0100887HP:0000568Microphthalmia1PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types.6
HP:0100887HP:0000568Microphthalmia1PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2.11
HP:0100887HP:0000568Microphthalmia1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0100887HP:0000568Microphthalmia1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0100887HP:0000568Microphthalmia1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0100887HP:0000568Microphthalmia1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare180
HP:0100887HP:0000568Microphthalmia1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0100887HP:0001090Abnormally large globe1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0100887HP:0000568Microphthalmia1POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent180
HP:0100887HP:0000528Anophthalmia1POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent180
HP:0100887HP:0000568Microphthalmia1POMGNT2 CL E G H8489225902OMIM:614830MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8.33
HP:0100887HP:0000528Anophthalmia1POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent33
HP:0100887HP:0000568Microphthalmia1POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent33
HP:0100887HP:0000568Microphthalmia1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare18
HP:0100887HP:0001090Abnormally large globe1POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12.18
HP:0100887HP:0000568Microphthalmia1POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12.18
HP:0100887HP:0000568Microphthalmia1POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent18
HP:0100887HP:0000528Anophthalmia1POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent18
HP:0100887HP:0000568Microphthalmia1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare213
HP:0100887HP:0000568Microphthalmia1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0100887HP:0001090Abnormally large globe1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0100887HP:0000528Anophthalmia1POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent213
HP:0100887HP:0000568Microphthalmia1POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent213
HP:0100887HP:0000568Microphthalmia1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare221
HP:0100887HP:0000568Microphthalmia1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0100887HP:0001090Abnormally large globe1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0100887HP:0000568Microphthalmia1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0100887HP:0001090Abnormally large globe1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0100887HP:0000568Microphthalmia1POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent221
HP:0100887HP:0000528Anophthalmia1POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent221
HP:0100887HP:0000568Microphthalmia1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0100887HP:0000568Microphthalmia1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0100887HP:0000528Anophthalmia1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0100887HP:0000568Microphthalmia1PQBP1 CL E G H100849330OMIM:309500Renpenning syndromeHP:0040283 - Occasional28
HP:0100887HP:0000568Microphthalmia1PRIM1 CL E G H55579369OMIM:620005
HP:0100887HP:0000568Microphthalmia1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0100887HP:0000568Microphthalmia1PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 6.11
HP:0100887HP:0000568Microphthalmia1PRSS56 CL E G H64696039433ORPHA:35612NanophthalmosHP:0040281 - Very frequent11
HP:0100887HP:0000568Microphthalmia1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100887HP:0000568Microphthalmia1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0100887HP:0000568Microphthalmia1PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0100887HP:0000568Microphthalmia1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100887HP:0001090Abnormally large globe1PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0100887HP:0000568Microphthalmia1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0100887HP:0000568Microphthalmia1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0100887HP:0001090Abnormally large globe1PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomalies22
HP:0100887HP:0000568Microphthalmia1RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0100887HP:0000568Microphthalmia1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0100887HP:0000568Microphthalmia1RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0100887HP:0000568Microphthalmia1RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0100887HP:0000568Microphthalmia1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0100887HP:0000568Microphthalmia1RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0100887HP:0000568Microphthalmia1RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0100887HP:0000568Microphthalmia1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0100887HP:0000568Microphthalmia1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0100887HP:0000568Microphthalmia1RARB CL E G H59159865ORPHA:2470Matthew-Wood syndromeHP:0040281 - Very frequent9
HP:0100887HP:0000528Anophthalmia1RARB CL E G H59159865ORPHA:2470Matthew-Wood syndromeHP:0040281 - Very frequent9
HP:0100887HP:0000568Microphthalmia1RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 12.9
HP:0100887HP:0000528Anophthalmia1RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 12.9
HP:0100887HP:0000528Anophthalmia1RAX CL E G H3006218662OMIM:611038Microphthalmia, isolated 3.43
HP:0100887HP:0000568Microphthalmia1RAX CL E G H3006218662OMIM:611038Microphthalmia, isolated 3.43
HP:0100887HP:0000568Microphthalmia1RAX CL E G H3006218662ORPHA:35612NanophthalmosHP:0040281 - Very frequent43
HP:0100887HP:0000568Microphthalmia1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0100887HP:0000568Microphthalmia1RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 2.68
HP:0100887HP:0000568Microphthalmia1RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 10.8
HP:0100887HP:0000528Anophthalmia1RBP4 CL E G H59509922OMIM:616428Microphthalmia, isolated, with coloboma 10.8
HP:0100887HP:0000568Microphthalmia1RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040282 - Frequent3
HP:0100887HP:0000568Microphthalmia1RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0100887HP:0000568Microphthalmia1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0100887HP:0000568Microphthalmia1RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0100887HP:0000568Microphthalmia1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0100887HP:0000568Microphthalmia1RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0100887HP:0000568Microphthalmia1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 1HP:0040283 - Occasional69
HP:0100887HP:0000568Microphthalmia1RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0100887HP:0000528Anophthalmia1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0100887HP:0000568Microphthalmia1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0100887HP:0000568Microphthalmia1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0100887HP:0000528Anophthalmia1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0100887HP:0000568Microphthalmia1RPGRIP1L CL E G H2332229168OMIM:611561Meckel syndrome, type 5.167
HP:0100887HP:0000568Microphthalmia1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0100887HP:0000568Microphthalmia1RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0100887HP:0000568Microphthalmia1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0100887HP:0000568Microphthalmia1RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizuresHP:0040284 - Very rare113
HP:0100887HP:0000528Anophthalmia1RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0100887HP:0000568Microphthalmia1RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0100887HP:0000568Microphthalmia1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040283 - Occasional124
HP:0100887HP:0000568Microphthalmia1SALL4 CL E G H5716715924ORPHA:959Acro-renal-ocular syndromeHP:0040283 - Occasional86
HP:0100887HP:0000568Microphthalmia1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0100887HP:0001090Abnormally large globe1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0100887HP:0000568Microphthalmia1SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare1053
HP:0100887HP:0000568Microphthalmia1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0100887HP:0000528Anophthalmia1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0100887HP:0000568Microphthalmia1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0100887HP:0000568Microphthalmia1SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0100887HP:0000568Microphthalmia1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0100887HP:0000528Anophthalmia1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0100887HP:0001090Abnormally large globe1SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0100887HP:0000568Microphthalmia1SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 5HP:0040281 - Very frequent67
HP:0100887HP:0000528Anophthalmia1SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 567
HP:0100887HP:0000568Microphthalmia1SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0100887HP:0000528Anophthalmia1SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0100887HP:0000568Microphthalmia1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0100887HP:0000568Microphthalmia1SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 2.32
HP:0100887HP:0000568Microphthalmia1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0100887HP:0000528Anophthalmia1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0100887HP:0000568Microphthalmia1SIX6 CL E G H499010892ORPHA:35612NanophthalmosHP:0040281 - Very frequent20
HP:0100887HP:0000568Microphthalmia1SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophy.20
HP:0100887HP:0000568Microphthalmia1SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0100887HP:0000568Microphthalmia1SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare255
HP:0100887HP:0000568Microphthalmia1SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 2HP:0040283 - Occasional13
HP:0100887HP:0000568Microphthalmia1SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare29
HP:0100887HP:0000568Microphthalmia1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0100887HP:0000568Microphthalmia1SMAD4 CL E G H40896770OMIM:139210Myhre syndromeHP:0040283 - Occasional504
HP:0100887HP:0000568Microphthalmia1SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0100887HP:0000568Microphthalmia1SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome.174
HP:0100887HP:0000568Microphthalmia1SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040282 - Frequent174
HP:0100887HP:0000528Anophthalmia1SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040282 - Frequent174
HP:0100887HP:0000568Microphthalmia1SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome2
HP:0100887HP:0000568Microphthalmia1SMO CL E G H660811119ORPHA:1553Curry-Jones syndromeHP:0040282 - Frequent22
HP:0100887HP:0000568Microphthalmia1SMO CL E G H660811119OMIM:601707Curry-Jones syndrome.22
HP:0100887HP:0000528Anophthalmia1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomalies15
HP:0100887HP:0000568Microphthalmia1SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0100887HP:0000568Microphthalmia1SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040281 - Very frequent15
HP:0100887HP:0000528Anophthalmia1SMOC1 CL E G H6409320318OMIM:206920Microphthalmia with limb anomalies.15
HP:0100887HP:0000568Microphthalmia1SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040281 - Very frequent33
HP:0100887HP:0000528Anophthalmia1SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040281 - Very frequent33
HP:0100887HP:0000568Microphthalmia1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0100887HP:0000528Anophthalmia1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0100887HP:0000568Microphthalmia1SOX2 CL E G H665711195ORPHA:35612NanophthalmosHP:0040281 - Very frequent33
HP:0100887HP:0000568Microphthalmia1SPECC1L CL E G H2338429022OMIM:600251Facial clefting, oblique, 16
HP:0100887HP:0000568Microphthalmia1SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0100887HP:0000568Microphthalmia1STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndromeHP:0040281 - Very frequent71
HP:0100887HP:0000528Anophthalmia1STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndromeHP:0040281 - Very frequent71
HP:0100887HP:0000568Microphthalmia1STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 971
HP:0100887HP:0000528Anophthalmia1STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0100887HP:0000568Microphthalmia1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100887HP:0000568Microphthalmia1SYCE1 CL E G H9342628852OMIM:616947PREMATURE OVARIAN FAILURE 12; POF124
HP:0100887HP:0000568Microphthalmia1SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare108
HP:0100887HP:0000568Microphthalmia1TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0100887HP:0000568Microphthalmia1TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0100887HP:0000568Microphthalmia1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0100887HP:0000568Microphthalmia1TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0100887HP:0000568Microphthalmia1TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0100887HP:0000568Microphthalmia1TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040282 - Frequent1
HP:0100887HP:0000568Microphthalmia1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0100887HP:0000568Microphthalmia1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0100887HP:0000568Microphthalmia1TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0100887HP:0000568Microphthalmia1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0100887HP:0000528Anophthalmia1TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0100887HP:0000568Microphthalmia1TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0100887HP:0000528Anophthalmia1TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0100887HP:0000568Microphthalmia1TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0100887HP:0000568Microphthalmia1TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0100887HP:0000528Anophthalmia1TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0100887HP:0000528Anophthalmia1TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0100887HP:0000568Microphthalmia1TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0100887HP:0000568Microphthalmia1TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0100887HP:0000568Microphthalmia1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0100887HP:0000528Anophthalmia1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0100887HP:0000568Microphthalmia1TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0100887HP:0000568Microphthalmia1TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0100887HP:0000528Anophthalmia1TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0100887HP:0000568Microphthalmia1TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0100887HP:0000528Anophthalmia1TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0100887HP:0000568Microphthalmia1TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0100887HP:0000568Microphthalmia1TMEM216 CL E G H5125925018OMIM:603194Meckel syndrome, type 2HP:0040283 - Occasional45
HP:0100887HP:0000528Anophthalmia1TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0100887HP:0000568Microphthalmia1TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0100887HP:0000568Microphthalmia1TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0100887HP:0000568Microphthalmia1TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0100887HP:0000528Anophthalmia1TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0100887HP:0000568Microphthalmia1TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0100887HP:0000528Anophthalmia1TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0100887HP:0000568Microphthalmia1TMEM98 CL E G H2602224529ORPHA:35612NanophthalmosHP:0040281 - Very frequent3
HP:0100887HP:0000568Microphthalmia1TMEM98 CL E G H2602224529OMIM:615972Nanophthalmos 4.3
HP:0100887HP:0000568Microphthalmia1TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0100887HP:0000568Microphthalmia1TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0100887HP:0000568Microphthalmia1TRIP13 CL E G H931912307ORPHA:1052Mosaic variegated aneuploidy syndromeHP:0040281 - Very frequent2
HP:0100887HP:0000568Microphthalmia1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0100887HP:0000568Microphthalmia1TUBB CL E G H20306820778OMIM:615771Cortical dysplasia, complex, with other brain malformations 6HP:0040283 - Occasional14
HP:0100887HP:0000568Microphthalmia1TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0100887HP:0000568Microphthalmia1TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1HP:0040283 - Occasional14
HP:0100887HP:0000568Microphthalmia1TUBGCP4 CL E G H2722916691OMIM:616335Microcephaly and chorioretinopathy, autosomal recessive, 3.14
HP:0100887HP:0000568Microphthalmia1TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 1.61
HP:0100887HP:0001090Abnormally large globe1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0100887HP:0000568Microphthalmia1TXNDC15 CL E G H7977020652OMIM:6198792
HP:0100887HP:0000568Microphthalmia1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0100887HP:0000528Anophthalmia1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0100887HP:0000568Microphthalmia1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0100887HP:0000568Microphthalmia1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0100887HP:0000568Microphthalmia1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0100887HP:0000568Microphthalmia1VAX1 CL E G H1102312660OMIM:614402Microphthalmia, syndromic 11.5
HP:0100887HP:0000568Microphthalmia1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040283 - Occasional546
HP:0100887HP:0000568Microphthalmia1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0100887HP:0000568Microphthalmia1VSX2 CL E G H3389171975OMIM:610093MICROPHTHALMIA, ISOLATED 2; MCOP266
HP:0100887HP:0000568Microphthalmia1VSX2 CL E G H3389171975OMIM:610092MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB366
HP:0100887HP:0001090Abnormally large globe1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0100887HP:0000568Microphthalmia1WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0100887HP:0000568Microphthalmia1WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0100887HP:0000568Microphthalmia1WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12
HP:0100887HP:0000568Microphthalmia1WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0100887HP:0000568Microphthalmia1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0100887HP:0000568Microphthalmia1XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040282 - Frequent5
HP:0100887HP:0000568Microphthalmia1YAP1 CL E G H1041316262OMIM:120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardationHP:0040283 - Occasional2
HP:0100887HP:0000568Microphthalmia1YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040282 - Frequent2
HP:0100887HP:0000568Microphthalmia1ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0100887HP:0000568Microphthalmia1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0100887HP:0000568Microphthalmia1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0100887HP:0000568Microphthalmia1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14
HP:0100887HP:0000568Microphthalmia1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0100887HP:0000557Buphthalmos2ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0100887HP:0000557Buphthalmos2AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0100887HP:0011478True anophthalmia2ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 810
HP:0100887HP:0000557Buphthalmos2ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0100887HP:0000557Buphthalmos2ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0100887HP:0011480Unilateral microphthalmos2CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0100887HP:0007633Bilateral microphthalmos2CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0100887HP:0007633Bilateral microphthalmos2CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0100887HP:0011480Unilateral microphthalmos2CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0100887HP:0007800Increased axial length of the globe2CPSF1 CL E G H298942324OMIM:618827MYOPIA 27, AUTOSOMAL DOMINANT; MYP27
HP:0100887HP:0000557Buphthalmos2CYP1B1 CL E G H15452597OMIM:231300Glaucoma 3, primary congenital, A.101
HP:0100887HP:0000557Buphthalmos2DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040283 - Occasional108
HP:0100887HP:0000557Buphthalmos2DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0100887HP:0007633Bilateral microphthalmos2ERCC1 CL E G H20673433OMIM:610758Cerebrooculofacioskeletal syndrome 4.20
HP:0100887HP:0007633Bilateral microphthalmos2ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0100887HP:0007633Bilateral microphthalmos2ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0100887HP:0007633Bilateral microphthalmos2FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040282 - Frequent8
HP:0100887HP:0007800Increased axial length of the globe2FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0100887HP:0000557Buphthalmos2FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0100887HP:0007633Bilateral microphthalmos2FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent111
HP:0100887HP:0000557Buphthalmos2FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0100887HP:0000557Buphthalmos2FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0100887HP:0007633Bilateral microphthalmos2FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0100887HP:0000557Buphthalmos2FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1.3
HP:0100887HP:0000557Buphthalmos2FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0100887HP:0007633Bilateral microphthalmos2GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0100887HP:0007633Bilateral microphthalmos2GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0100887HP:0000557Buphthalmos2GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidismHP:0040283 - Occasional143
HP:0100887HP:0000557Buphthalmos2GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0100887HP:0007633Bilateral microphthalmos2GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0100887HP:0007633Bilateral microphthalmos2GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0100887HP:0000557Buphthalmos2LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0100887HP:0007800Increased axial length of the globe2LRPAP1 CL E G H40436701OMIM:615431Myopia 23, autosomal recessive4
HP:0100887HP:0000557Buphthalmos2MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0100887HP:0007633Bilateral microphthalmos2MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0100887HP:0007633Bilateral microphthalmos2MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0100887HP:0000557Buphthalmos2NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0100887HP:0000557Buphthalmos2NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0100887HP:0000557Buphthalmos2NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0100887HP:0000557Buphthalmos2OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0100887HP:0007633Bilateral microphthalmos2PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040283 - Occasional194
HP:0100887HP:0011480Unilateral microphthalmos2PAX6 CL E G H50808620ORPHA:137902Isolated optic nerve hypoplasia/aplasiaHP:0040283 - Occasional194
HP:0100887HP:0000557Buphthalmos2POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0100887HP:0000557Buphthalmos2POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0100887HP:0000557Buphthalmos2POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0100887HP:0000557Buphthalmos2POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0100887HP:0007633Bilateral microphthalmos2PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0100887HP:0000557Buphthalmos2PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0100887HP:0007633Bilateral microphthalmos2PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0100887HP:0000557Buphthalmos2PXDN CL E G H783714966OMIM:269400Corneal opacification with other ocular anomaliesHP:0040283 - Occasional22
HP:0100887HP:0007633Bilateral microphthalmos2RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0100887HP:0007633Bilateral microphthalmos2RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0100887HP:0000557Buphthalmos2SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0100887HP:0000557Buphthalmos2SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0100887HP:0007633Bilateral microphthalmos2SHH CL E G H646910848OMIM:611638Microphthalmia, isolated, with coloboma 5.67
HP:0100887HP:0011478True anophthalmia2SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040281 - Very frequent15
HP:0100887HP:0007633Bilateral microphthalmos2STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0100887HP:0007633Bilateral microphthalmos2TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0100887HP:0007633Bilateral microphthalmos2TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0100887HP:0000557Buphthalmos2TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0100887HP:0007633Bilateral microphthalmos2VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040282 - Frequent6
HP:0100887HP:0007800Increased axial length of the globe2WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8


Genes (302) :ABCB6 ACTB ACTG1 ADAMTSL1 AKT1 ALDH1A3 ALDH6A1 ALKBH8 ALX1 ALX3 ALX4 AP2M1 ARHGAP31 ARVCF ARX ASPH ATN1 ATOH7 ATR B3GALNT2 B3GAT3 B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 BRCA1 BRCA2 BRIP1 BUB1 BUB1B BUB3 C12ORF57 CAPN15 CARS1 CASK CC2D2A CENPF CEP120 CEP290 CEP57 CHD2 CHD7 CHST3 CHSY1 CHUK COL2A1 COL4A1 COMT COX14 COX7B CPSF1 CRB1 CRPPA CRYAA CSPP1 CTDP1 CTNNB1 CYP1B1 CYTB DACT1 DAG1 DLL4 DOCK6 DOCK7 DONSON DPYD EBP EOGT ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBXW11 FGF3 FGFR1 FGFR2 FIG4 FKRP FKTN FOXC2 FOXE3 FOXL2 FRAS1 FREM1 FREM2 FUT8 FZD4 GDF3 GDF6 GJA1 GJA5 GJA8 GLI2 GLI3 GLIS3 GMPPB GNAQ GP1BB GRIP1 GTF2E2 GTF2H5 HCCS HDAC6 HIRA HMGB3 HMX1 HRAS HYLS1 IKBKG INTS1 INTU JAM3 JMJD1C KCNJ1 KCNJ6 KERA KIF11 KIF14 KIF15 KIF7 KRAS LAMB2 LARGE1 LMBRD2 LRP5 LRPAP1 MAB21L1 MAB21L2 MAD2L2 MAPRE2 MBTPS2 MED12 MED13L MED25 MFRP MITF MKS1 MPLKIP MSTO1 NAA10 NCAPG2 NDP NDUFB11 NEXMIF NHS NOTCH1 NRAS NUAK2 NUP188 OCRL OSGEP OTX2 PALB2 PAX2 PAX6 PCYT1A PDE6D PEX7 PHGDH PHYH PIEZO2 PIGN PIGV PIK3CA PIK3R2 PITX3 PLK4 POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PQBP1 PRIM1 PRR12 PRSS56 PTCH1 PTCH2 PTEN PUF60 PXDN RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RARB RAX RB1 RBBP8 RBP4 RBPJ RECQL4 RERE RFWD3 RHOA RIPK4 RNF113A RPGRIP1 RPGRIP1L RREB1 RSPO2 RTTN RXYLT1 SALL1 SALL4 SBF2 SCN1A SEC24C SEMA3E SETD5 SF3B2 SH3PXD2B SHH SIN3A SIX3 SIX6 SLC25A24 SLC2A1 SLC38A8 SLC6A1 SLX4 SMAD4 SMARCA2 SMCHD1 SMG9 SMO SMOC1 SOX2 SPECC1L SRD5A3 STRA6 SUFU SYCE1 SYNGAP1 TARS1 TBC1D20 TBL1XR1 TBR1 TBX1 TBX15 TCOF1 TCTN1 TCTN2 TCTN3 TENM3 TFAP2A TKFC TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TMTC3 TOGARAM1 TRIP13 TSPAN12 TUBB TUBGCP4 TUBGCP6 TWIST1 TXNDC15 UBE2T UFD1 VAC14 VAX1 VPS13B VPS35L VSX2 WDR26 WDR37 WDR73 WNT3 XRCC2 XYLT2 YAP1 ZEB2 ZNF408 ZNF699

Diseases (305) :OMIM:614497 OMIM:243310 OMIM:614583 ORPHA:521445 ORPHA:744 OMIM:615113 ORPHA:35612 OMIM:614105 OMIM:618504 OMIM:613456 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:613451 ORPHA:228390 ORPHA:1942 ORPHA:974 OMIM:100300 ORPHA:567 OMIM:300004 OMIM:308350 OMIM:601552 OMIM:618494 ORPHA:91495 OMIM:221900 OMIM:210600 OMIM:615181 ORPHA:899 OMIM:245600 ORPHA:564 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 OMIM:193220 ORPHA:139471 OMIM:607932 ORPHA:84 OMIM:617883 OMIM:609054 ORPHA:1052 ORPHA:1777 OMIM:619318 ORPHA:33364 OMIM:300749 OMIM:243605 OMIM:616300 OMIM:611134 ORPHA:138 OMIM:214800 ORPHA:363417 OMIM:619339 OMIM:200610 OMIM:175780 OMIM:619053 ORPHA:2556 OMIM:309801 OMIM:618827 OMIM:614643 OMIM:604219 OMIM:615636 ORPHA:48431 ORPHA:891 OMIM:231300 ORPHA:137675 ORPHA:857 ORPHA:370997 OMIM:616538 OMIM:614219 ORPHA:411986 OMIM:251230 OMIM:274270 OMIM:302960 ORPHA:401973 ORPHA:35173 OMIM:610758 ORPHA:90322 ORPHA:1466 OMIM:610756 OMIM:601675 OMIM:278730 OMIM:610651 ORPHA:90321 OMIM:616570 OMIM:278780 OMIM:214150 ORPHA:90324 OMIM:133540 ORPHA:3103 OMIM:268300 ORPHA:93325 OMIM:602361 OMIM:127000 OMIM:227650 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:614082 OMIM:609053 OMIM:614083 OMIM:154700 OMIM:618914 ORPHA:2791 OMIM:613001 ORPHA:2117 OMIM:614592 OMIM:101400 ORPHA:3472 ORPHA:370959 OMIM:236670 OMIM:613153 OMIM:253800 OMIM:153400 OMIM:610256 ORPHA:83461 OMIM:110100 ORPHA:2052 OMIM:219000 OMIM:248450 ORPHA:2717 OMIM:123570 OMIM:618005 OMIM:613704 OMIM:613703 OMIM:613094 OMIM:164200 OMIM:257850 OMIM:612474 OMIM:610829 OMIM:146510 ORPHA:672 OMIM:610199 OMIM:185300 OMIM:616395 OMIM:300863 ORPHA:163966 OMIM:300915 OMIM:612109 ORPHA:2612 ORPHA:2189 OMIM:236680 ORPHA:464 OMIM:308300 OMIM:618571 OMIM:617925 OMIM:613730 OMIM:241200 ORPHA:435628 OMIM:614098 OMIM:217300 OMIM:152950 ORPHA:2526 OMIM:617914 OMIM:619981 OMIM:609049 OMIM:619694 OMIM:259770 ORPHA:2788 OMIM:615431 OMIM:618479 OMIM:615877 ORPHA:2505 OMIM:616734 ORPHA:85284 OMIM:300895 ORPHA:369891 ORPHA:464738 OMIM:611040 OMIM:609549 OMIM:617306 OMIM:249000 OMIM:234050 ORPHA:502423 OMIM:618460 OMIM:305390 OMIM:310600 ORPHA:649 ORPHA:627 OMIM:302350 OMIM:619452 OMIM:618804 OMIM:309000 ORPHA:534 OMIM:617729 OMIM:610125 OMIM:120330 OMIM:604229 ORPHA:2334 OMIM:120200 ORPHA:137902 ORPHA:85167 OMIM:615665 ORPHA:773 OMIM:256520 OMIM:248700 ORPHA:2059 OMIM:239300 OMIM:602501 OMIM:603387 OMIM:610623 OMIM:616171 ORPHA:861 OMIM:253280 OMIM:614830 OMIM:615249 OMIM:613150 OMIM:305600 ORPHA:2092 OMIM:309500 OMIM:620005 OMIM:619539 OMIM:613517 OMIM:109400 OMIM:610828 ORPHA:77301 ORPHA:508488 ORPHA:508498 OMIM:269400 ORPHA:2510 OMIM:614222 OMIM:600118 OMIM:212720 OMIM:614225 ORPHA:2470 OMIM:615524 OMIM:611038 ORPHA:1587 OMIM:606744 OMIM:616428 OMIM:268400 OMIM:616975 ORPHA:494344 OMIM:618727 OMIM:263650 OMIM:611561 ORPHA:3301 ORPHA:468631 OMIM:614833 ORPHA:959 OMIM:607323 ORPHA:99956 ORPHA:404440 OMIM:164210 OMIM:249420 OMIM:611638 OMIM:147250 OMIM:613406 OMIM:157170 OMIM:206900 OMIM:212550 OMIM:612289 OMIM:609218 OMIM:139210 ORPHA:2728 OMIM:603457 ORPHA:2250 OMIM:616920 OMIM:601707 ORPHA:1553 OMIM:206920 ORPHA:1106 ORPHA:77298 OMIM:600251 OMIM:612379 OMIM:601186 OMIM:616947 OMIM:615663 OMIM:602342 ORPHA:487825 ORPHA:1617 OMIM:260660 OMIM:154500 OMIM:613885 OMIM:615145 OMIM:113620 OMIM:618805 OMIM:608091 OMIM:603194 OMIM:614424 OMIM:615972 OMIM:617255 OMIM:619185 OMIM:615771 OMIM:156610 OMIM:616335 OMIM:251270 OMIM:619879 OMIM:614402 ORPHA:193 OMIM:619135 OMIM:610093 OMIM:610092 ORPHA:513456 OMIM:618652 OMIM:251300 OMIM:273395 ORPHA:85194 OMIM:120433 ORPHA:1473 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:619488
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.